Incidental Mutation 'IGL00589:Rwdd4a'
| ID |
6223 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rwdd4a
|
| Ensembl Gene |
ENSMUSG00000031568 |
| Gene Name |
RWD domain containing 4A |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.135)
|
| Stock # |
IGL00589
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
47986680-48005872 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 47997219 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 146
(E146V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033973
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033973]
[ENSMUST00000175692]
[ENSMUST00000176379]
|
| AlphaFold |
Q9CPR1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033973
AA Change: E146V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000033973
Gene: ENSMUSG00000031568
AA Change: E146V
| Domain | Start | End | E-Value | Type |
|---|
|
RWD
|
9 |
111 |
1.07e-12 |
SMART |
|
low complexity region
|
131 |
153 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175692
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176379
|
| SMART Domains |
Protein: ENSMUSP00000135059
Gene: ENSMUSG00000031568
| Domain | Start | End | E-Value | Type |
|---|
|
RWD
|
9 |
111 |
1.07e-12 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177215
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot9 |
A |
T |
X: 154,078,236 (GRCm39) |
I261L |
possibly damaging |
Het |
| Adcy8 |
A |
T |
15: 64,659,216 (GRCm39) |
F525I |
probably damaging |
Het |
| Ahr |
A |
T |
12: 35,554,096 (GRCm39) |
Y674* |
probably null |
Het |
| Baz1b |
A |
G |
5: 135,225,346 (GRCm39) |
E43G |
possibly damaging |
Het |
| Ccz1 |
T |
C |
5: 143,949,713 (GRCm39) |
T72A |
probably damaging |
Het |
| Chd9 |
G |
A |
8: 91,742,474 (GRCm39) |
R1629H |
probably damaging |
Het |
| Ell3 |
A |
T |
2: 121,270,761 (GRCm39) |
D257E |
probably benign |
Het |
| Fbxw26 |
T |
C |
9: 109,547,016 (GRCm39) |
|
probably benign |
Het |
| Isg20 |
G |
A |
7: 78,566,332 (GRCm39) |
D94N |
probably damaging |
Het |
| Mettl13 |
A |
T |
1: 162,369,960 (GRCm39) |
S392R |
probably damaging |
Het |
| Ms4a1 |
T |
A |
19: 11,231,923 (GRCm39) |
T151S |
probably benign |
Het |
| Nphp1 |
A |
G |
2: 127,605,769 (GRCm39) |
I352T |
probably damaging |
Het |
| Or1e1 |
T |
A |
11: 73,244,869 (GRCm39) |
C97S |
probably damaging |
Het |
| Pds5a |
T |
C |
5: 65,813,687 (GRCm39) |
D266G |
probably damaging |
Het |
| Rnf103 |
T |
C |
6: 71,486,067 (GRCm39) |
Y233H |
probably benign |
Het |
| Serpinb1c |
T |
C |
13: 33,067,958 (GRCm39) |
K213E |
probably damaging |
Het |
| Slc17a5 |
T |
C |
9: 78,485,816 (GRCm39) |
I90V |
probably benign |
Het |
| Slc38a3 |
G |
A |
9: 107,535,876 (GRCm39) |
L86F |
probably damaging |
Het |
| Tbc1d2b |
T |
C |
9: 90,108,262 (GRCm39) |
T430A |
probably benign |
Het |
| Utrn |
C |
T |
10: 12,554,362 (GRCm39) |
V1576M |
possibly damaging |
Het |
| Vwa8 |
T |
A |
14: 79,275,635 (GRCm39) |
L806Q |
probably damaging |
Het |
|
| Other mutations in Rwdd4a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01092:Rwdd4a
|
APN |
8 |
47,997,147 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
IGL01717:Rwdd4a
|
APN |
8 |
47,997,140 (GRCm39) |
splice site |
probably benign |
|
|
IGL02268:Rwdd4a
|
APN |
8 |
48,003,731 (GRCm39) |
nonsense |
probably null |
|
|
IGL02813:Rwdd4a
|
APN |
8 |
47,990,396 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03023:Rwdd4a
|
APN |
8 |
47,995,803 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0051:Rwdd4a
|
UTSW |
8 |
47,990,400 (GRCm39) |
splice site |
probably benign |
|
|
R0051:Rwdd4a
|
UTSW |
8 |
47,990,400 (GRCm39) |
splice site |
probably benign |
|
|
R0149:Rwdd4a
|
UTSW |
8 |
47,997,255 (GRCm39) |
missense |
probably null |
0.02 |
|
R0179:Rwdd4a
|
UTSW |
8 |
47,995,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5046:Rwdd4a
|
UTSW |
8 |
47,995,837 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5141:Rwdd4a
|
UTSW |
8 |
48,003,709 (GRCm39) |
intron |
probably benign |
|
|
R6280:Rwdd4a
|
UTSW |
8 |
47,995,832 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6742:Rwdd4a
|
UTSW |
8 |
48,000,998 (GRCm39) |
splice site |
probably null |
|
|
R7816:Rwdd4a
|
UTSW |
8 |
47,990,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8864:Rwdd4a
|
UTSW |
8 |
48,000,876 (GRCm39) |
unclassified |
probably benign |
|
|
| Posted On |
2012-04-20 |
Incidental Mutation